Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E

NCT03488784 | Completed

• 1 other identifier: IRB17-01086
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years. Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.

Conditions

Limb-Girdle Muscular Dystrophy Type 2A; Limb-Girdle Muscular Dystrophy, Type 2E

Outcome Measures

Primary Outcomes (1)

• Strength

  Force production testing using standardized equipment

  6 months

Secondary Outcomes (2)

• Walking speed

  6 months

• Physical functioning

  6 months

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals suspected of having LGMD type 2E or type 2A due to symptoms and a diagnosed family member or a member of a community with a large population of one of these two types. Individuals with a diagnosis of LGMD2E or LGMD2A with genetic testing including carriers of type 2E or type 2A

You may qualify if:

• Suspected LGMD2A or LGMD2E by symptoms and having a family member diagnosed with 2A or 2E, or have genetic confirmation of one of these two types of LGMD themselves.
• Perform assessments to the best of their ability with reliable results as deemed by the evaluator. Ability to attend scheduled appointments Ability to provide informed consent (or assent for ages 9-18)

You may not qualify if:

• Confirmed diagnosis of neuromuscular disorder other than LGMD2E or LGMD2A Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's well being, safety, or clinical interpretability.

Sponsors & Collaborators

• Lindsay Alfano: lead

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 432015, United States

Location

MeSH Terms

Conditions

Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy, type 2E

Study Officials

• Linda Lowes, PT PhD

  Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: March 29, 2018
• First Posted: April 5, 2018
• Study Start: November 29, 2016
• Primary Completion: August 11, 2025
• Study Completion: August 11, 2025
• Last Updated: August 14, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)